Canonical Allele Identifier: CA125166

Gene: HBB

Linked Data

• ClinVar Variation Id: 15352
• ClinVar RCV Id: RCV000016598 ; RCV000016599 ; RCV000016600 ; RCV000589517 ; RCV001004561 ; RCV002476975
• dbSNP Id: rs35256489
• ExAC: 11:5246940 A / G
• gnomAD v2: 11-5246940-A-G
• gnomAD v3: 11-5225710-A-G
• gnomAD v4: 11-5225710-A-G
• MyVariant Identifiers: chr11:g.5246940A>G (hg19) ; chr11:g.5225710A>G (hg38)
• PubMed: PMID:2005117 ; PMID:2822177 ; PMID:3417300 ; PMID:10520021 ; PMID:15768552 ; PMID:18495504 ; PMID:19254853 ; PMID:21119755

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225710A>G , CM000673.2:g.5225710A>G	GRCh38
NC_000011.9:g.5246940A>G , CM000673.1:g.5246940A>G	GRCh37
NC_000011.8:g.5203516A>G	NCBI36
NG_000007.3:g.71906T>C
NG_059281.1:g.6362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.332T>C	ENSP00000494175.1:p.Leu111Pro
ENST00000335295.4:c.332T>C MANE Select	ENSP00000333994.3:p.Leu111Pro
ENST00000475226.1:n.264T>C
ENST00000633227.1:c.*148T>C	ENSP00000488004.1:n.*148T>C
NM_000518.4:c.332T>C	NP_000509.1:p.Leu111Pro
NM_000518.5:c.332T>C MANE Select	NP_000509.1:p.Leu111Pro